15034 results for "cancer studies using rna-seq"

in 24.65 milliseconds.

• Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia

  Blast crisis (BC) predicts dismal outcomes in patients with chronic myeloid leukaemia (CML). We comprehensively investigated genetic abnormalities in 136 BC and 148 chronic phase (CP) samples obtained from 216 CML patients using exome and targeted sequencing.

  Study EGAS00001005075

• Molecular profiling of DLBCL patients treated in the PETAL trial

  Using whole-exome sequencing and shallow whole genome sequencing for simultaneous screening of mutations, copy number alterations, and translocations, 5 biology-based risk profiles could be reproduced in an independent cohort of DLBCL patients, from the PETAL trial.

  Study EGAS00001005828

• Clonal_dynamics_and_mutation_burden_in_male_germline_

  This work aim to study clonal dynamics of pathogenic mutations in male germline. Using Nanoseq method, sperm from normal panel will be compared with sperm from men who have either clinical phynotypes or they have child(ren) with germline predisposition syndromes.

  Study EGAS00001006346

• Targeted sequencing of brain AVM tissues

  We previously identified somatic activating KRAS mutations in a majority of human arteriovenous malformations (AVMs), using whole exome sequencing. We have now performed targeted sequencing on AVMS, investigating genes in the RAS-MAPK pathway, angiogenesis and brain vascular disorders among others.

  Study EGAS00001006729

• Summary statistics of meta-analysis using two genome-wide association study of inflammatory bowel disease in Koreans.

  We combined samples from 1,469 inflammatory bowel disease (IBD) patients consisted of 896 Crohn’s disease (CD) and 573 ulcerative colitis (UC) and 4,041 controls used in our previously published GWAS with 1,726 additional IBD patients (725 CD and 1,001 UC) and 378 additional controls genotyped using the Asian Screening Array (ASA). We uploaded summary statistics of three meta-analyses in text files.

  Dataset EGAD00001006983

• Dataset of the sequenced and imputed genotypes

  Samples from 149 trios from the Saguenay-Lac-Saint-Jean asthma familial cohort were all sequenced using a custom capture panel developed by our group, followed by next-generation sequencing. This custom capture panel covers around 3% of the genome, including coding and non-coding immune regulatory regions. We inferred the sequence in the non-sequenced siblings who were part of the same families as the trios and we imputed the sequence using IMPUTE2 in the whole cohort.

  Dataset EGAD00001004268

• Paired WGS data of 45 samples and 2 paired WES sample of RRMM (multiple myeloma)

  Here is mostly paired WGS data of RRMM, 45 samples (tumors and controls) in 86 runs. This data was produced by using Illumina TruSeq Nano DNA and NovaSeq6000 or HiSeq X Ten for sequencing. One tumor/control pair is WES data using Agilent SureSelect V5+UTRs and NovaSeq6000 for sequencing.

  Dataset EGAD00001009682

• Megabase scale methylation phasing using Nanopore long reads and NanoMethPhase

  This paper describes the work by Akbari V,. et al. on detection of allele specific methylation using oxford nanopore sequencing data. They have developed set of tools, SNVoter and NanoMethPhase, and workflow which enable the detection of allele specific methylation even in samples with sparse coverage of nanopore sequencing data.

  Dataset EGAD00001007920

• Naive B-cell receptor heavy chain repertoire of celiac patients and healthy controls

  High throughput sequencing dataset of antibody repertoires from naive B-cells, taken from blood samples of 100 individuals from Norway. 48 healthy controls and 52 patients with celiac disease. Sequencing was performed using a 300*2 paired-end kit by Illumina MiSeq. The sequences were processed using pRESTO. Each fastq file in the dataset is the repertoire of a single individual.

  Dataset EGAD00001004512

• Single-cell Multi-omics Sequencing of Human Early Embryos

  The whole blood of six female volunteers and sperm from one male volunteer were used to extract genomic DNA using a DNeasy Blood & Tissue Kit (QIAGEN). 500 ng gDNA was fragmented into 300 bp by Covaris. Then, the libraries were constructed using a KAPA Hyper Prep Kit (Kapa Biosystems). In total we have 7 samples and the files we uploaded are pair-end fastq files.

  Dataset EGAD00001004108